Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA691086177

Gene:

Linked Data

dbSNP Id: rs72011118

gnomAD v3: 12-66000732-TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG-T

gnomAD v4: 12-66000732-TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG-T

MyVariant Identifiers: chr12:g.66394513_66394542del (hg19) chr12:g.66000733_66000762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.66000758_66000787del , CM000674.2:g.66000758_66000787del	GRCh38
NC_000012.11:g.66394538_66394567del , CM000674.1:g.66394538_66394567del	GRCh37
NC_000012.10:g.64680805_64680834del	NCBI36

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